association between ERCC2 c.2251A>C polymorphism and risk of colorectal cancer in Iran population

The excision repair cross-complementing group 2 (ERCC2 (is a Nucleotide Excision Repair (NER) gene. The ERCC2 c.2251A>C Polymorphism is located in codon 751 of exon 23 which result in amino acid changes (Lys751Gln) in the ERCC2. This Polymorphism is associated with decreased DNA repair capacity cause to genetic instability and carcinogenesis. Thus, we examined the associations between ERCC2 c.2251A>C Polymorphism and sporadic colorectal cancer in Iranian population.

In this case-control study, 291 incident sporadic colorectal cancer cases and 140 controls were analyzed. ERCC2 Genotyping was done using a polymerase chain reaction restriction fragment length poly-morphism (PCR-RFLP).

Genotype frequency of c.2251A>C in ERCC2 in patients and healthy groups was significantly different (p<0.05). The results indicated that the mutant allele (C) can increased significantly risk of colorectal cancer (OR: 1.37; 95% CI: 1.03-1.83). Also, In ERCC2 genotypes, the CC genotype led to an increase in risk of colorectal cancer (OR: 2.37; 95% CI: 1.03-5.48).

According to the Our results the ERCC2 c.2251A>C Polymorphism involved in colorectal cancer susceptibility in Iranian population.